From genome-wide associations to candidate causal variants by statistical fine-mapping

DJ Schaid, W Chen, NB Larson - Nature Reviews Genetics, 2018 - nature.com
Advancing from statistical associations of complex traits with genetic markers to
understanding the functional genetic variants that influence traits is often a complex process …

Dissecting the genetics of complex traits using summary association statistics

B Pasaniuc, AL Price - Nature reviews genetics, 2017 - nature.com
During the past decade, genome-wide association studies (GWAS) have been used to
successfully identify tens of thousands of genetic variants associated with complex traits and …

An atlas of healthy and injured cell states and niches in the human kidney

BB Lake, R Menon, S Winfree, Q Hu, R Melo Ferreira… - Nature, 2023 - nature.com
Understanding kidney disease relies on defining the complexity of cell types and states, their
associated molecular profiles and interactions within tissue neighbourhoods. Here we …

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

JJ Lee, R Wedow, A Okbay, E Kong, O Maghzian… - Nature …, 2018 - nature.com
Here we conducted a large-scale genetic association analysis of educational attainment in a
sample of approximately 1.1 million individuals and identify 1,271 independent genome …

Fine-mapping from summary data with the “Sum of Single Effects” model

Y Zou, P Carbonetto, G Wang, M Stephens - PLoS Genetics, 2022 - journals.plos.org
In recent work, Wang et al introduced the “Sum of Single Effects”(SuSiE) model, and showed
that it provides a simple and efficient approach to fine-mapping genetic variants from …

Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

D Demontis, GB Walters, G Athanasiadis, R Walters… - Nature …, 2023 - nature.com
Attention-deficit hyperactivity disorder (ADHD) is a prevalent neurodevelopmental disorder
with a major genetic component. Here, we present a genome-wide association study meta …

A simple new approach to variable selection in regression, with application to genetic fine mapping

G Wang, A Sarkar, P Carbonetto… - Journal of the Royal …, 2020 - academic.oup.com
We introduce a simple new approach to variable selection in linear regression, with a
particular focus on quantifying uncertainty in which variables should be selected. The …

A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci

D Chang, MA Nalls, IB Hallgrímsdóttir, J Hunkapiller… - Nature …, 2017 - nature.com
Common variant genome-wide association studies (GWASs) have, to date, identified> 24
risk loci for Parkinson's disease (PD). To discover additional loci, we carried out a GWAS …

[PDF][PDF] Colocalization of GWAS and eQTL signals detects target genes

F Hormozdiari, M Van De Bunt, AV Segre, X Li… - The American Journal of …, 2016 - cell.com
The vast majority of genome-wide association study (GWAS) risk loci fall in non-coding
regions of the genome. One possible hypothesis is that these GWAS risk loci alter the …

CARMA is a new Bayesian model for fine-mapping in genome-wide association meta-analyses

Z Yang, C Wang, L Liu, A Khan, A Lee, B Vardarajan… - Nature Genetics, 2023 - nature.com
Fine-mapping is commonly used to identify putative causal variants at genome-wide
significant loci. Here we propose a Bayesian model for fine-mapping that has several …